7-64975728-T-C

Variant names:

• chr7-64975728-T-C
• rs9638416
• ENST00000282869.11:c.*2391A>G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000282869.11(ZNF117):​c.*2391A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.949 in 152,178 control chromosomes in the GnomAD database, including 68,965 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.95 (68965 hom., cov: 32)
  • Failed GnomAD Quality Control
• Consequence: ZNF117 ENST00000282869.11 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.981
• Publications: 3 publications found

Genes affected

ZNF117 (HGNC:12897): (zinc finger protein 117) This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Readthrough transcription occurs between this gene and the upstream endogenous retrovirus group 3 member 1 (ERV3-1) locus, and may result in additional transcript variants encoding the zinc finger protein. [provided by RefSeq, Jan 2017]

ERV3-1-ZNF117 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.993 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ERV3-1-ZNF117	NM_001348050.2	c.*2391A>G		3_prime_UTR_variant	Exon 4 of 4		NP_001334979.1
ZNF117	NM_015852.5	c.*2391A>G		3_prime_UTR_variant	Exon 4 of 4		NP_056936.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ZNF117	ENST00000282869.11	c.*2391A>G		3_prime_UTR_variant	Exon 4 of 4	1		ENSP00000282869.5
ZNF117	ENST00000714026.1	c.*2391A>G		3_prime_UTR_variant	Exon 4 of 4			ENSP00000519316.1
ZNF117	ENST00000714027.1	c.*2391A>G		3_prime_UTR_variant	Exon 5 of 5			ENSP00000519317.1

Frequencies

GnomAD3 genomes AF: 0.949 AC: 144296 AN: 152060 Hom.: 68938 Cov.: 32

Gnomad AFR AF: 0.824

Gnomad AMI AF: 1.00

Gnomad AMR AF: 0.977

Gnomad ASJ AF: 0.995

Gnomad EAS AF: 1.00

Gnomad SAS AF: 0.998

Gnomad FIN AF: 1.00

Gnomad MID AF: 0.984

Gnomad NFE AF: 0.999

Gnomad OTH AF: 0.970

GnomAD4 exome Data not reliable, filtered out with message: AC0 AC: 0 AN: 0 Hom.: 0 Cov.: 0 AC XY: 0 AN XY: 0

African (AFR) AC: 0 AN: 0

American (AMR) AC: 0 AN: 0

Ashkenazi Jewish (ASJ) AC: 0 AN: 0

East Asian (EAS) AC: 0 AN: 0

South Asian (SAS) AC: 0 AN: 0

European-Finnish (FIN) AC: 0 AN: 0

Middle Eastern (MID) AC: 0 AN: 0

European-Non Finnish (NFE) AC: 0 AN: 0

Other (OTH) AC: 0 AN: 0

GnomAD4 genome AF: 0.949 AC: 144375 AN: 152178 Hom.: 68965 Cov.: 32 AF XY: 0.950 AC XY: 70665 AN XY: 74408

African (AFR) AF: 0.824 AC: 34199 AN: 41506

American (AMR) AF: 0.977 AC: 14929 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.995 AC: 3454 AN: 3472

East Asian (EAS) AF: 1.00 AC: 5186 AN: 5186

South Asian (SAS) AF: 0.998 AC: 4823 AN: 4832

European-Finnish (FIN) AF: 1.00 AC: 10605 AN: 10606

Middle Eastern (MID) AF: 0.983 AC: 289 AN: 294

European-Non Finnish (NFE) AF: 0.999 AC: 67929 AN: 67978

Other (OTH) AF: 0.970 AC: 2049 AN: 2112

Alfa AF: 0.965 Hom.: 9221

Bravo AF: 0.941

Asia WGS AF: 0.989 AC: 3411 AN: 3448

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.38
DANN	Benign	0.81
PhyloP100		-0.98
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs9638416; hg19: chr7-64436106;